Mutagenetix > Incidental Mutation

Incidental Mutation 'R2192:Fam20a'

238235

Institutional Source

Beutler Lab

Gene Symbol

Fam20a

Ensembl Gene

ENSMUSG00000020614

Gene Name

FAM20A, golgi associated secretory pathway pseudokinase

Synonyms

MMRRC Submission

040194-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2192 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109563752-109613989 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109565449 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 454 (M454T)

Ref Sequence

ENSEMBL: ENSMUSP00000116687 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020938] [ENSMUST00000049527] [ENSMUST00000106677] [ENSMUST00000155559]

AlphaFold

Q8CID3

Predicted Effect

probably benign
Transcript: ENSMUST00000020938
AA Change: M454T

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000020938
Gene: ENSMUSG00000020614
AA Change: M454T

Domain	Start	End	E-Value	Type
transmembrane domain	9	28	N/A	INTRINSIC
low complexity region	50	61	N/A	INTRINSIC
Pfam:Fam20C	306	522	8.9e-101	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049527

SMART Domains

Protein: ENSMUSP00000056500
Gene: ENSMUSG00000020612

Domain	Start	End	E-Value	Type
low complexity region	9	20	N/A	INTRINSIC
RIIa	25	62	7.54e-15	SMART
cNMP	137	253	2.99e-32	SMART
cNMP	255	374	1.74e-33	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106677

SMART Domains

Protein: ENSMUSP00000102288
Gene: ENSMUSG00000020612

Domain	Start	End	E-Value	Type
low complexity region	9	20	N/A	INTRINSIC
RIIa	25	62	7.54e-15	SMART
cNMP	137	253	2.99e-32	SMART
cNMP	255	374	1.74e-33	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144972

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146408

Predicted Effect

probably benign
Transcript: ENSMUST00000155559
AA Change: M454T

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000116687
Gene: ENSMUSG00000020614
AA Change: M454T

Domain	Start	End	E-Value	Type
transmembrane domain	9	28	N/A	INTRINSIC
low complexity region	50	61	N/A	INTRINSIC
Pfam:DUF1193	305	525	3.2e-103	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a protein that is likely secreted and may function in hematopoiesis. A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal ameloblast morphology, disrupted dental enamel formation in both incisor and molar teeth, abnormal kidney morphology, disseminated calcifications of muscular arteries, and intrapulmonary calcifications. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	A	T	2: 131,403,289 (GRCm39)	M267K	probably damaging	Het
Aen	T	C	7: 78,555,793 (GRCm39)		probably null	Het
Ano2	A	G	6: 125,992,502 (GRCm39)	D825G	probably damaging	Het
Bdh2	T	C	3: 135,001,025 (GRCm39)	S142P	probably damaging	Het
Celsr1	A	G	15: 85,800,924 (GRCm39)	L2507P	possibly damaging	Het
Ces3a	T	C	8: 105,782,212 (GRCm39)	F308S	probably benign	Het
Cfap47	C	T	X: 78,454,218 (GRCm39)	R1646Q	probably damaging	Het
Chd4	T	A	6: 125,082,320 (GRCm39)	M603K	probably damaging	Het
Cit	T	C	5: 116,106,068 (GRCm39)	V984A	probably benign	Het
Clstn3	A	T	6: 124,436,166 (GRCm39)	D194E	probably damaging	Het
Ctdp1	T	C	18: 80,492,696 (GRCm39)	R600G	probably benign	Het
Ctnnd1	C	T	2: 84,439,907 (GRCm39)	G801D	probably damaging	Het
Dgkg	A	G	16: 22,407,049 (GRCm39)	F179L	probably damaging	Het
Dlg3	G	A	X: 99,817,827 (GRCm39)	D379N	probably damaging	Het
Drd2	G	T	9: 49,314,571 (GRCm39)	R267S	probably benign	Het
Dsg1b	T	C	18: 20,542,675 (GRCm39)	*1061Q	probably null	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Edc3	T	C	9: 57,620,826 (GRCm39)	V49A	probably damaging	Het
Ern1	G	A	11: 106,300,750 (GRCm39)	T548I	probably benign	Het
Fam186a	T	C	15: 99,838,192 (GRCm39)	D2684G	possibly damaging	Het
Fbp2	A	G	13: 63,006,056 (GRCm39)	M19T	possibly damaging	Het
Frmd4b	A	T	6: 97,464,577 (GRCm39)	C47S	probably damaging	Het
Gtf2h1	T	A	7: 46,464,747 (GRCm39)	I388N	possibly damaging	Het
Hectd4	T	C	5: 121,453,206 (GRCm39)	V571A	possibly damaging	Het
Helz2	T	A	2: 180,870,841 (GRCm39)	K2832*	probably null	Het
Herc1	T	A	9: 66,372,688 (GRCm39)	D3081E	probably damaging	Het
Hmcn1	A	T	1: 150,591,566 (GRCm39)	S1878T	probably damaging	Het
Iars1	A	G	13: 49,841,605 (GRCm39)		probably null	Het
Il17rd	A	T	14: 26,816,835 (GRCm39)	K180M	probably damaging	Het
Ints6l	T	A	X: 55,550,110 (GRCm39)	H678Q	probably benign	Het
Khdrbs1	A	G	4: 129,613,830 (GRCm39)		probably null	Het
Lce3a	A	C	3: 92,832,837 (GRCm39)	S88A	unknown	Het
Lgals12	C	T	19: 7,578,606 (GRCm39)		probably null	Het
Lnpk	T	C	2: 74,399,373 (GRCm39)	T57A	probably benign	Het
Lrp2bp	C	T	8: 46,466,206 (GRCm39)	T105I	probably benign	Het
Lrrc4c	C	G	2: 97,459,657 (GRCm39)	N94K	possibly damaging	Het
Mag	A	T	7: 30,600,066 (GRCm39)	Y571*	probably null	Het
Mbd1	T	A	18: 74,410,449 (GRCm39)	D583E	probably damaging	Het
Mill1	T	A	7: 17,998,544 (GRCm39)	Y251*	probably null	Het
Mllt10	T	C	2: 18,211,871 (GRCm39)	I928T	probably benign	Het
Ms4a18	T	C	19: 10,991,029 (GRCm39)	T22A	probably benign	Het
Mtmr14	T	C	6: 113,257,700 (GRCm39)	F250L	probably damaging	Het
Mtmr3	A	T	11: 4,449,032 (GRCm39)	W244R	probably damaging	Het
Myorg	A	G	4: 41,497,704 (GRCm39)	I642T	probably damaging	Het
Nat10	C	A	2: 103,556,522 (GRCm39)	E885D	probably benign	Het
Nbeal1	T	A	1: 60,321,054 (GRCm39)	L2055H	probably damaging	Het
Necab3	T	A	2: 154,388,999 (GRCm39)	I192F	possibly damaging	Het
Nedd4	T	A	9: 72,650,000 (GRCm39)	N783K	probably damaging	Het
Nf2	A	T	11: 4,749,899 (GRCm39)	W61R	probably damaging	Het
Nox4	T	A	7: 87,023,588 (GRCm39)	F491L	probably benign	Het
Omt2b	G	A	9: 78,235,457 (GRCm39)		probably benign	Het
Or4c125	A	T	2: 89,170,009 (GRCm39)	Y212*	probably null	Het
Or4c127	T	A	2: 89,832,774 (GRCm39)	I8N	probably damaging	Het
Or8i2	A	G	2: 86,852,855 (GRCm39)	V11A	probably benign	Het
Osbpl5	A	T	7: 143,247,596 (GRCm39)	Y723*	probably null	Het
Otop2	T	C	11: 115,217,757 (GRCm39)	S198P	possibly damaging	Het
Pgam5	T	G	5: 110,413,785 (GRCm39)	H126P	probably damaging	Het
Phip	A	T	9: 82,753,868 (GRCm39)	N1625K	probably damaging	Het
Phospho2	T	A	2: 69,626,451 (GRCm39)	Y202*	probably null	Het
Pkd1l3	T	A	8: 110,347,156 (GRCm39)	H176Q	unknown	Het
Plxdc2	A	G	2: 16,570,147 (GRCm39)	R109G	probably damaging	Het
Prorsd1	T	C	11: 29,463,592 (GRCm39)	K57E	probably benign	Het
Rnf150	A	T	8: 83,591,020 (GRCm39)	R128W	probably damaging	Het
Samm50	G	A	15: 84,084,625 (GRCm39)		probably null	Het
Skint6	A	T	4: 112,722,909 (GRCm39)	Y889*	probably null	Het
Slc35b1	T	C	11: 95,276,640 (GRCm39)	Y40H	probably damaging	Het
Speg	A	G	1: 75,394,371 (GRCm39)	H1722R	probably damaging	Het
Suz12	T	C	11: 79,913,024 (GRCm39)	L356P	probably damaging	Het
Tln2	T	G	9: 67,262,503 (GRCm39)	I585L	probably damaging	Het
Trim2	G	A	3: 84,098,225 (GRCm39)	Q359*	probably null	Het
Ttc28	T	C	5: 111,371,362 (GRCm39)	Y635H	probably damaging	Het
Ttn	C	T	2: 76,543,549 (GRCm39)	E33146K	probably damaging	Het
Vcp	G	T	4: 42,982,547 (GRCm39)	T715K	probably benign	Het
Vmn1r230	T	A	17: 21,067,355 (GRCm39)	N181K	probably benign	Het
Vmn2r17	T	A	5: 109,582,144 (GRCm39)	M511K	possibly damaging	Het
Wdfy3	C	T	5: 102,055,408 (GRCm39)	R1554Q	possibly damaging	Het
Zfp112	A	T	7: 23,824,863 (GRCm39)	Q277L	probably damaging	Het
Zfp850	T	C	7: 27,684,620 (GRCm39)	E42G	probably damaging	Het
Zfp976	G	A	7: 42,262,695 (GRCm39)	P381S	probably damaging	Het
Zzef1	A	T	11: 72,800,982 (GRCm39)		probably null	Het

Other mutations in Fam20a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00827:Fam20a	APN	11	109,568,588 (GRCm39)	splice site	probably benign
IGL01296:Fam20a	APN	11	109,576,177 (GRCm39)	missense	possibly damaging	0.93
IGL01319:Fam20a	APN	11	109,569,284 (GRCm39)	splice site	probably benign
IGL01322:Fam20a	APN	11	109,573,738 (GRCm39)	missense	probably damaging	1.00
IGL02086:Fam20a	APN	11	109,564,239 (GRCm39)	missense	probably benign	0.00
IGL02563:Fam20a	APN	11	109,568,620 (GRCm39)	missense	possibly damaging	0.53
IGL02883:Fam20a	APN	11	109,565,953 (GRCm39)	missense	probably damaging	0.99
IGL02893:Fam20a	APN	11	109,612,414 (GRCm39)	missense	probably benign	0.00
Infamy	UTSW	11	109,564,168 (GRCm39)	missense	possibly damaging	0.87
snide	UTSW	11	109,612,201 (GRCm39)	missense	possibly damaging	0.92
ungainly	UTSW	11	109,573,696 (GRCm39)	nonsense	probably null
P0026:Fam20a	UTSW	11	109,566,667 (GRCm39)	critical splice donor site	probably null
R0726:Fam20a	UTSW	11	109,568,020 (GRCm39)	missense	probably damaging	1.00
R1317:Fam20a	UTSW	11	109,568,664 (GRCm39)	missense	probably damaging	0.99
R1462:Fam20a	UTSW	11	109,568,143 (GRCm39)	missense	probably damaging	1.00
R1462:Fam20a	UTSW	11	109,568,143 (GRCm39)	missense	probably damaging	1.00
R1751:Fam20a	UTSW	11	109,568,664 (GRCm39)	missense	probably damaging	0.99
R1761:Fam20a	UTSW	11	109,568,664 (GRCm39)	missense	probably damaging	0.99
R1889:Fam20a	UTSW	11	109,564,380 (GRCm39)	missense	probably benign	0.30
R1895:Fam20a	UTSW	11	109,564,380 (GRCm39)	missense	probably benign	0.30
R1971:Fam20a	UTSW	11	109,576,237 (GRCm39)	missense	probably damaging	1.00
R3745:Fam20a	UTSW	11	109,568,616 (GRCm39)	missense	probably benign	0.17
R4684:Fam20a	UTSW	11	109,612,513 (GRCm39)	missense	unknown
R4835:Fam20a	UTSW	11	109,564,389 (GRCm39)	missense	probably benign	0.40
R5045:Fam20a	UTSW	11	109,568,711 (GRCm39)	missense	probably benign	0.38
R5161:Fam20a	UTSW	11	109,564,196 (GRCm39)	missense	probably benign	0.00
R5715:Fam20a	UTSW	11	109,569,257 (GRCm39)	missense	probably damaging	1.00
R5817:Fam20a	UTSW	11	109,564,244 (GRCm39)	missense	possibly damaging	0.81
R5960:Fam20a	UTSW	11	109,566,795 (GRCm39)	intron	probably benign
R6162:Fam20a	UTSW	11	109,573,696 (GRCm39)	nonsense	probably null
R6312:Fam20a	UTSW	11	109,565,456 (GRCm39)	missense	probably damaging	1.00
R7231:Fam20a	UTSW	11	109,612,201 (GRCm39)	missense	possibly damaging	0.92
R7311:Fam20a	UTSW	11	109,565,454 (GRCm39)	nonsense	probably null
R7366:Fam20a	UTSW	11	109,564,168 (GRCm39)	missense	possibly damaging	0.87
R8013:Fam20a	UTSW	11	109,576,332 (GRCm39)	missense	possibly damaging	0.92
R8014:Fam20a	UTSW	11	109,576,332 (GRCm39)	missense	possibly damaging	0.92
R9086:Fam20a	UTSW	11	109,566,754 (GRCm39)	nonsense	probably null
R9751:Fam20a	UTSW	11	109,565,992 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATCCGAGTGGGTTCAAGATTAAAGG -3'
(R):5'- AACTTGAGGCTTCTGGGACC -3'

Sequencing Primer
(F):5'- TGGGTTCAAGATTAAAGGTAGTGAC -3'
(R):5'- CTTCTGGGACCTGGCTGAAG -3'

Posted On

2014-10-02